Towbin JA - Search Results

1

San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease.

Gelb BD, Towbin JA, McCabe ER, Sujansky E. Gelb BD, et al. Among authors: towbin ja. Am J Med Genet. 1991 Sep 15;40(4):471-6. doi: 10.1002/ajmg.1320400420. Am J Med Genet. 1991. PMID: 1746613 Review.

2

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Ware SM, et al. Am J Hum Genet. 2004 Jan;74(1):93-105. doi: 10.1086/380998. Epub 2003 Dec 16. Am J Hum Genet. 2004. PMID: 14681828 Free PMC article.

3

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM. Villamizar C, et al. Eur J Med Genet. 2010 Mar-Apr;53(2):80-4. doi: 10.1016/j.ejmg.2009.11.001. Epub 2009 Nov 23. Eur J Med Genet. 2010. PMID: 19941982 Free PMC article.

4

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Hanchard NA, et al. Among authors: towbin ja. Am J Med Genet A. 2017 Aug;173(8):2176-2188. doi: 10.1002/ajmg.a.38309. Epub 2017 Jun 27. Am J Med Genet A. 2017. PMID: 28653806 Free PMC article.

5

Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy.

Arola AM, Sanchez X, Murphy RT, Hasle E, Li H, Elliott PM, McKenna WJ, Towbin JA, Bowles NE. Arola AM, et al. Among authors: towbin ja. Mol Genet Metab. 2007 Apr;90(4):435-40. doi: 10.1016/j.ymgme.2006.12.008. Epub 2007 Jan 24. Mol Genet Metab. 2007. PMID: 17254821

6

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mohapatra B, et al. Among authors: towbin ja. Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15. doi: 10.1016/s1096-7192(03)00142-2. Mol Genet Metab. 2003. PMID: 14567970

7

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.

Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Shchelochkov OA, et al. Among authors: towbin ja. Mol Genet Metab. 2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24. Mol Genet Metab. 2010. PMID: 20728387

8

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. Hanchard NA, et al. Among authors: towbin ja. Hum Mol Genet. 2016 Jun 1;25(11):2331-2341. doi: 10.1093/hmg/ddw071. Epub 2016 Mar 9. Hum Mol Genet. 2016. PMID: 26965164 Free PMC article.

9

Dilation of the aortic root in mitochondrial disease patients.

Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Brunetti-Pierri N, et al. Among authors: towbin ja. Mol Genet Metab. 2011 Jun;103(2):167-70. doi: 10.1016/j.ymgme.2011.02.007. Epub 2011 Feb 18. Mol Genet Metab. 2011. PMID: 21406331

10

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Mohapatra B, et al. Among authors: towbin ja. Hum Mol Genet. 2009 Mar 1;18(5):861-71. doi: 10.1093/hmg/ddn411. Epub 2008 Dec 8. Hum Mol Genet. 2009. PMID: 19064609 Free PMC article.

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